One in nine million...

November 25, 2012

BLACKFOOT—Saddie Bruderer is a happy 8-year-old. She is a straight A student in the third grade and a talented dancer with the Downtown Dance show team.
Yet there is something about Saddie that sets her apart from her peers and from the rest of the world. Something that makes her one in nine million.
On Aug. 9, 2009 Saddie was diagnosed with Alpha 1 Antitrypsin, the third most common serious genetic disorder in the world. Alpha 1 can result in life-threatening liver or lung disease in children and adults and is the leading cause of liver transplantation in children.
Saddie's condition was caught early after a battle with the flu and rotovirus showed heightened liver levels that did not go down after the illnesses left her system.
"We were very blessed to get such an early diagnosis for Saddie." said her mother, Misti Bruderer.

If the Alpha-1 affects the lungs augmentation therapy is required. This consists of weekly infusions of Alpha-1 antitrypsin which is derived from human plasma to help with lung function. Alpha-1 affects approximately 100,000 people nationwide and less than 10 percent of those living with it have been properly diagnosed. Saddie's younger brother Easton is a carrier of the disease and her youngest brother, Tucker, will be tested for Alpha-1 next year.
Early this month, Governor C.L. "Butch" Otter declared November as Alpha-1 Awareness Month. The proclamation was the effort led by individuals affected by Alpha-1 throughout Idaho and the U.S.
Aside from having Alpha-1, Saddie's uniqueness far surpassed even the doctor's thoughts. In August of 2010 Saddie was diagnosed with Wilson disease. Wilson disease is a genetic disorder that prevents the body from getting rid of extra copper.
A small amount of copper obtained from food is needed to stay healthy, but too much copper is poisonous. In Wilson disease, copper builds up in the liver, brain, eyes and other organs. Over time, high copper levels can cause life-threatening organ damage.
Both of Saddie's parents must be carriers of Wilson disease for Saddie to get it. This rare disease in combination with Alpaha-1 makes Saddie one in nine million to have both.
"They don't know how her body will react to both because there is no other documented case," said Misti, "Her doctor is following her very close and is going to publish some articles about Saddie and her journey."
Saddie is now taking medication for help her body get rid of the excess copper in her system.
"It is a pretty scary medicine," said Misti, "none of the capsule can get on your skin or her throat or it will cause burns."
Easton also has a 50 percent chance of having Wilson's and will be tested every six months until he is 18. Misti said,
"I was always the one who said, if 'that or that' happened to me… I could not handle it, but now 'that' it is happening to me, it has taught Marshall (Saddie's father) and I what is really important in this life. We have learned to lean on the Lord and to take things one step at a time because he will take care of us. We know how precious our beautiful kids are and try not to take one single moment for granted," Misti concluded.